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A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-209617
Biblioteca responsável: WPRO
ABSTRACT
Nasu-Hakola disease (NHD) is a rare autosomal recessive neuropsychiatric disorder characterized by bone cysts, fractures, and cognitive impairment. Two genes are responsible for the development of NHD; TYROBP and TREM2. Although it presents with typical signs and symptoms, diagnosing this disease remains difficult. This case report describes a male with NHD with no family or past history of bone fractures who was diagnosed using exome sequencing. His frontal lobe psychiatric symptoms recovered partially following treatment with sodium valproate, but not with an antipsychotic.
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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Sódio / Cistos Ósseos / Humanos / Masculino / Ácido Valproico / Consanguinidade / Fraturas Ósseas / Exoma / Lobo Frontal Idioma: Inglês Revista: Clinical Psychopharmacology and Neuroscience Ano de publicação: 2015 Tipo de documento: Artigo